Severe factor VII deficiency caused by a novel mutation His348 to Gln in the catalytic domain.

Abstract:

:Factor VII is a vitamin K-dependent zymogen that plays a key role in the initiation of the extrinsic pathway. A severe factor VII deficiency was identified in a 45-year old male whose plasma factor VII antigen was less than 60 ng/ml and expressed 5.2% of normal factor VII activity. DNA sequence analysis of the patient's factor VII gene showed a thymidine to guanine transversion at nucleotide 10968 in exon VIII that results in a novel amino acid substitution of His348 to Gln. The patient was homozygous for this mutation, whereas some of his family members were heterozygous. Both wild type and mutant factor VII were transiently expressed in COS-1 cells. The level of secreted mutant factor VII antigen was only 11.0% of the level of wild type factor VII. In CHO cells stably transfected with the mutant factor VII, only 37.3% of the total labeled FVII was secreted into the conditioned media and the remainder was retained inside the cells. These data suggest this mutation leads to factor VII deficiency due to the impaired secretion of the molecule.

journal_name

Thromb Haemost

authors

Katsumi A,Matsushita T,Yamazaki T,Sugiura I,Kojima T,Saito H

keywords:

subject

Has Abstract

pub_date

2000-02-01 00:00:00

pages

239-43

issue

2

eissn

0340-6245

issn

2567-689X

pii

00020239

journal_volume

83

pub_type

杂志文章
  • Pharmacokinetics and Pharmacodynamics of Emicizumab in Persons with Hemophilia A with Factor VIII Inhibitors: HAVEN 1 Study.

    abstract::Emicizumab, a bispecific monoclonal antibody, bridges activated factor IX (FIXa) and FX, replacing the function of missing FVIIIa to restore effective hemostasis in persons with hemophilia A (PwHA). Here we assess pharmacokinetic (PK) and pharmacodynamic (PD) biomarkers in PwHA with FVIII inhibitors in the Phase III H...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1055/s-0040-1717114

    authors: Schmitt C,Adamkewicz JI,Xu J,Petry C,Catalani O,Young G,Negrier C,Callaghan MU,Levy GG

    更新日期:2020-10-21 00:00:00

  • The influence of variation in the P2Y12 receptor gene on in vitro platelet inhibition with the direct P2Y12 antagonist cangrelor.

    abstract::Novel P2Y12 inhibitors are in development to overcome the occurrence of atherothrombotic events associated with poor responsiveness to the widely used P2Y12 inhibitor clopidogrel. Cangrelor is an intravenously administered P2Y12 inhibitor that does not need metabolic conversion to an active metabolite for its antiplat...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH09-06-0367

    authors: Bouman HJ,van Werkum JW,Rudez G,Leebeek FW,Kruit A,Hackeng CM,Ten Berg JM,de Maat MP,Ruven HJ

    更新日期:2010-02-01 00:00:00

  • Obstacles and options in the quest for drug candidates against vascular disease.

    abstract::The difficulties in cardiovascular drug development have been exposed by recent clinical trials, which have uncovered various limitations of promising drug candidates. Yet, the imperative to improve medical treatment of atherosclerosis in aging populations afflicted by metabolic disease remains unbroken. Herein altern...

    journal_title:Thrombosis and haemostasis

    pub_type: 社论

    doi:10.1160/TH10-04-0256

    authors: Weber C

    更新日期:2010-07-01 00:00:00

  • Epidemiology and pathophysiology of venous thromboembolism: similarities with atherothrombosis and the role of inflammation.

    abstract::Venous thromboembolism (VTE) is a multifactorial disease. Major provoking factors (e. g. surgery, cancer, major trauma, and immobilisation) are identified in 50-60 % of patients, while the remaining cases are classified as unprovoked. However, minor predisposing conditions may be detectable in these patients, possibly...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章,评审

    doi:10.1160/TH14-06-0563

    authors: Riva N,Donadini MP,Ageno W

    更新日期:2015-06-01 00:00:00

  • Prognostic importance of anaemia in patients with acute pulmonary embolism.

    abstract::Although associated with adverse outcomes in other cardiopulmonary diseases, limited evidence exists on the prognostic value of anaemia in patients with acute pulmonary embolism (PE). We sought to examine the associations between anaemia and mortality and length of hospital stay in patients with PE. We evaluated 14,27...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章,多中心研究

    doi:10.1160/TH11-04-0208

    authors: Donzé J,Labarère J,Méan M,Jiménez D,Aujesky D

    更新日期:2011-08-01 00:00:00

  • Risk of pregnancy-related venous thrombosis in carriers of severe inherited thrombophilia.

    abstract::Homozygous carriers of factor V Leiden have an approximately 80-fold increased risk of venous thrombosis. Also double heterozygous carriers of both the factor V Leiden and the prothrombin gene mutations are at high thrombotic risk. The magnitude of the risk of venous thrombosis in pregnant women with the two severe th...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章,多中心研究

    doi:

    authors: Martinelli I,Legnani C,Bucciarelli P,Grandone E,De Stefano V,Mannucci PM

    更新日期:2001-09-01 00:00:00

  • The effect of fulminant hepatic failure on protein C antigen and activity.

    abstract::In eighteen patients with fulminant hepatic failure (FHF), in grade III or IV coma, both protein C antigen and activity were significantly decreased (0.35 +/- 0.03 u/ml and 0.35 +/- 0.03 u/ml respectively). There was a significant correlation between protein C antigen and activity (r = 0.61, p less than 0.01). Protein...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Langley PG,Williams R

    更新日期:1988-04-08 00:00:00

  • High levels of adhesion molecules are associated with impaired endothelium-dependent vasodilation in patients with peripheral arterial disease.

    abstract::Soluble intercellular adhesion molecule-1 (sICAM-1) and vascular cellular adhesion molecule-1 (sVCAM-1) were measured alongside flow-mediated vasodilation (FMD) in 34 patients with intermittent claudication and 14 control subjects. Patients with plasma sICAM-1 >253 ng/mL (median value) showed lower FMD than those with...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Brevetti G,Martone VD,de Cristofaro T,Corrado S,Silvestro A,Di Donato AM,Bucur R,Scopacasa F

    更新日期:2001-01-01 00:00:00

  • Randomised, double blind, multicentre, placebo controlled study of sulodexide in the treatment of venous leg ulcers.

    abstract::Sulodexide, a highly purified glycosaminoglycan, was investigated for treatment of venous leg ulcers. Patients (n = 235) undergoing local treatment including wound care and compression bandaging, were randomised to receive either sulodexide or matching placebo for three months. Primary study endpoint was complete ulce...

    journal_title:Thrombosis and haemostasis

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:

    authors: Coccheri S,Scondotto G,Agnelli G,Aloisi D,Palazzini E,Zamboni V,Venous arm of the SUAVIS (Sulodexide Arterial Venous Italian Study) Group.

    更新日期:2002-06-01 00:00:00

  • Sulfated, low-molecular-weight lignins are potent inhibitorsof plasmin, in addition to thrombin and factor Xa: Novel opportunity for controlling complex pathologies.

    abstract::Recently we prepared sulfated, low-molecular-weight lignins (LMWLs) to mimic the biological activities of heparin and heparan sulfate. Chemo-enzymatically prepared sulfated LMWLs represent a library of diverse non-sugar, aromatic molecules with structures radically different from the heparins, and have been found to p...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH09-07-0454

    authors: Henry BL,Abdel Aziz M,Zhou Q,Desai UR

    更新日期:2010-03-01 00:00:00

  • Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.

    abstract::Sixteen Danish unrelated thrombophilic families with plasma protein S deficiency of type 1 (or III) are currently under investigation in our laboratory for defects in the protein S alpha gene. The present paper describes a part of this work, which deals with the identification and phenotypical presentation of two uniq...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Andersen BD,Lind B,Philips M,Hansen AB,Ingerslev J,Thorsen S

    更新日期:1996-08-01 00:00:00

  • Antibodies against fibrinogen in pregnant women, in post delivery women and in the newborns.

    abstract::Pregnancy and delivery have measurable effects on haemostatic and immunological changes. Degradation of fibrinogen induces significant structural and conformational modulation and leads to the progressive loss of antigenic sites present on the parent molecule but also exposes some new sites. These neoantigens may be r...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Kondera-Anasz Z

    更新日期:1998-05-01 00:00:00

  • Serial determinations of platelet counts in mice by flow cytometry.

    abstract::Elucidation of the pathophysiological basis of platelet disorders in murine models requires a reliable method for the frequent determinations of platelet counts in individual mice. Here, we present a rapid, reproducible and accurate flow cytometric method for enumeration of platelets that involves fluorescent staining...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Alugupalli KR,Michelson AD,Barnard MR,Leong JM

    更新日期:2001-08-01 00:00:00

  • The HR2 haplotype of factor V: effects on factor V levels, normalized activated protein C sensitivity ratios and the risk of venous thrombosis.

    abstract::We studied the HR2 haplotype of the factor V gene in a case-control study for venous thrombosis including 474 patients with a first deep-vein thrombosis and 474 age- and sex-matched healthy controls (Leiden Thrombophilia Study, LETS). We investigated both the original His1299Arg (A4070G) polymorphism and the Met385Thr...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: de Visser MC,Guasch JF,Kamphuisen PW,Vos HL,Rosendaal FR,Bertina RM

    更新日期:2000-04-01 00:00:00

  • Intra-operative activation of coagulation--a stimulus to thrombosis mediated by vasopressin?

    abstract::Vasopressin infusions in normal volunteers that produce concentrations in plasma comparable to those seen during stress, cause an increase in plasma factor VIII and shortening of the euglobulin clot lysis time (ECLT). We have investigated the relationship between endogenous vasopressin (aVP) release and haemostatic fu...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Grant PJ,Tate GM,Davies JA,Williams NS,Prentice CR

    更新日期:1986-02-28 00:00:00

  • ApoA-I/HDL-C levels are inversely associated with abdominal aortic aneurysm progression.

    abstract::Abdominal aortic aneurysm (AAA) evolution is unpredictable, and there is no therapy except surgery for patients with an aortic size> 5 cm (large AAA). We aimed to identify new potential biomarkers that could facilitate prognosis and treatment of patients with AAA. A differential quantitative proteomic analysis of plas...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH14-10-0874

    authors: Burillo E,Lindholt JS,Molina-Sánchez P,Jorge I,Martinez-Pinna R,Blanco-Colio LM,Tarin C,Torres-Fonseca MM,Esteban M,Laustsen J,Ramos-Mozo P,Calvo E,Lopez JA,Vega de Ceniga M,Michel JB,Egido J,Andrés V,Vazquéz J,Meilha

    更新日期:2015-06-01 00:00:00

  • Collagen or collagen-related peptide cause (Ca2+)i elevation and increased tyrosine phosphorylation in human megakaryocytes.

    abstract::Since megakaryocytes are the cellular precursors of platelets we have investigated whether they share responses to platelet agonists, in particular collagen. Although previous studies have reported responses to thrombin in non-human megakaryocytes, through studies of single cell calcium responses and protein tyrosine-...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Mountford JC,Melford SK,Bunce CM,Gibbins J,Watson SP

    更新日期:1999-09-01 00:00:00

  • Ultrasound thrombolysis.

    abstract::Cardiovascular diseases are a major cause of mortality in the developed world. Efficacy of thrombolysis plays an important role in the management of acute myocardial infarction and cerebral insult both in the acute event and in the long-term outcome of these patients. New adjunctive strategies have been tested, theref...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章,评审

    doi:10.1160/TH04-12-0818

    authors: Pfaffenberger S,Devcic-Kuhar B,Kastl SP,Huber K,Maurer G,Wojta J,Gottsauner-Wolf M

    更新日期:2005-07-01 00:00:00

  • Sustained impact of electronic alerts on rate of prophylaxis against venous thromboembolism.

    abstract::Advanced electronic alerts (eAlerts) and computerised physician order entry (CPOE) increase adequate thromboprophylaxis orders among hospitalised medical patients. It remains unclear whether eAlerts maintain their efficacy over time, after withdrawal of continuing medical education (CME) on eAlerts and on thromboproph...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH11-04-0220

    authors: Beeler PE,Kucher N,Blaser J

    更新日期:2011-10-01 00:00:00

  • Recombinant activated protein C attenuates coagulopathy and inflammation when administered early in murine pneumococcal pneumonia.

    abstract::Recombinant human activated protein C (APC), which has both anticoagulant and anti-inflammatory properties, improves survival of patients with severe sepsis. This beneficial effect is especially apparent in patients with pneumococcal pneumonia. Earlier treatment with APC in sepsis has been associated with a better the...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH11-06-0438

    authors: Schouten M,van 't Veer C,Roelofs JJ,Gerlitz B,Grinnell BW,Levi M,van der Poll T

    更新日期:2011-12-01 00:00:00

  • Multicenter comparison of von Willebrand factor multimer sizing techniques. Report of the Factor VIII and von Willebrand Factor Subcommittee.

    abstract::A multicenter study of various types of von Willebrand's disease (vWD) was conducted in order to compare the different electrophoretic techniques used to evaluate von Willebrand factor multimers in plasma. Seven laboratories participated in the blind study of eight plasma samples from two healthy subjects and six vWD ...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Mannucci PM,Abildgaard CF,Gralnick HR,Hill FG,Hoyer LW,Lombardi R,Nilsson IM,Tuddenham E,Meyer D

    更新日期:1985-12-17 00:00:00

  • Alpha 2-adrenoreceptor status of human platelet subpopulations separated by continuous flow electrophoresis.

    abstract::Human platelets were separated into subpopulations using continuous flow electrophoresis, which uses electrophoretic mobility as the separative parameter. The platelets with the greatest electrophoretic mobility showed higher amounts of total sialic acid than the less electrophoretically mobile subpopulation (74.3 +/-...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Crook M,Crawford N

    更新日期:1993-01-11 00:00:00

  • Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity.

    abstract::Inherited severe hypoplasminogenaemia is a multisystemic disorder leading to deficient extravascular fibrinolysis. As a clinical consequence wound healing capacity of mucous membranes is markedly impaired leading to ligneous conjunctivitis and several other manifestations. Here we report the molecular genetic and clin...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH10-04-0216

    authors: Klammt J,Kobelt L,Aktas D,Durak I,Gokbuget A,Hughes Q,Irkec M,Kurtulus I,Lapi E,Mechoulam H,Mendoza-Londono R,Palumbo JS,Steitzer H,Tabbara KF,Ozbek Z,Pucci N,Sotomayor T,Sturm M,Drogies T,Ziegler M,Schuster V

    更新日期:2011-03-01 00:00:00

  • Antiplatelet activity of clopidogrel in coronary artery bypass graft surgery patients.

    abstract::Clopidogrel is a recently introduced platelet ADP receptor antagonist, belonging to the thienopyridine derivatives, like its analogue ticlopidine. Its potential advantage is to be safer than ticlopidine. At 75 mg/od clopidogrel significantly inhibits platelet aggregation in ambulatory patients with symptomatic atheros...

    journal_title:Thrombosis and haemostasis

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: David JL,Limet R

    更新日期:1999-11-01 00:00:00

  • The risk for thromboembolic disease in lupus anticoagulant patients due to pathways involving P-selectin and CD154.

    abstract::Individuals with lupus anticoagulants (LA) are at risk for thromboembolism (TE). Chronic inflammation is an important characteristic in LA patients which may dispose for TE. Platelets play a key role in inflammation and TE. We therefore investigated gene polymorphisms as well as plasma levels of platelet receptors as ...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Bugert P,Pabinger I,Stamer K,Vormittag R,Skeate RC,Wahi MM,Panzer S

    更新日期:2007-04-01 00:00:00

  • Polymorphisms of the plasminogen activator inhibitor-1 gene in type 1 and type 2 diabetes, and in patients with diabetic retinopathy.

    abstract::To identify whether genotype contributes to the difference in PAI-1 levels in type 1 and type 2 diabetic subjects and whether genotype relates to the development of retinopathy, a Hind III restriction fragment length polymorphism and two dinucleotide repeat polymorphisms were studied. In 519 Caucasian diabetic subject...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Mansfield MW,Stickland MH,Carter AM,Grant PJ

    更新日期:1994-06-01 00:00:00

  • Characterisation of epitopes on human tissue plasminogen activator recognised by a group of monoclonal antibodies.

    abstract::Seven mouse monoclonal antibodies have been produced against human melanoma tissue plasminogen activator (t-PA). They were specifically bound to 125I t-PA but not 125I urokinase (u-PA) and inhibited t-PA, but not u-PA, activity in plasminogen-rich 125I fibrin wells. Three of the antibodies directly inhibited the amido...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: MacGregor IR,Micklem LR,James K,Pepper DS

    更新日期:1985-02-18 00:00:00

  • Antiinflammatory effects of aspirin in ACS: relevant to its cardiocoronary actions?

    abstract::Vascular injury in acute coronary syndromes (ACS) involves a complex cross-talk between inflammatory mediators, platelets and thrombosis, where the interaction between platelets and coagulation factors (e. g. thrombin) is a central link between thrombosis and inflammation. In ACS, aspirin at antiplatelet doses exhibit...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章,评审

    doi:10.1160/TH15-03-0191

    authors: Hohlfeld T,Schrör K

    更新日期:2015-08-31 00:00:00

  • A long-acting PAI-1 inhibitor reduces thrombus formation.

    abstract::Plasminogen activator inhibitor 1 (PAI-1) is the main inhibitor of tissue-type and urokinase-type plasminogen activators (t/uPA) and plays an important role in fibrinolysis. Inhibition of PAI-1 activity prevents thrombosis and accelerates fibrinolysis, indicating that PAI-1 inhibitors may be used as effective antithro...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH16-11-0891

    authors: Peng S,Xue G,Gong L,Fang C,Chen J,Yuan C,Chen Z,Yao L,Furie B,Huang M

    更新日期:2017-06-28 00:00:00

  • Stroke and Thromboembolism in Warfarin-Treated Patients with Atrial Fibrillation: Comparing the CHA2DS2-VASc and GARFIELD-AF Risk Scores.

    abstract:BACKGROUND: Evaluation of thromboembolic risk is essential in anticoagulated atrial fibrillation (AF) patients. The CHA2DS2-VASc score is largely validated and recommended by most guidelines. The GARFIELD-AF Stroke score has been proposed as an alternative risk score. METHODS: We analyzed warfarin-treated patients fro...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1055/a-1333-4448

    authors: Proietti M,Rivera-Caravaca JM,Esteve-Pastor MA,Marín F,Lip GYH

    更新日期:2020-12-09 00:00:00